ClinVar for Gene (Select 2057) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276055	NM_000121.4(EPOR):c.1255G>A (p.Ala419Thr)	EPOR (A419T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3276054	NM_000121.4(EPOR):c.605G>C (p.Arg202Pro)	EPOR (R202P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3276053	NM_000121.4(EPOR):c.1198G>A (p.Gly400Ser)	EPOR (G400S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3239294	NM_000121.4(EPOR):c.953G>A (p.Ser318Asn)	EPOR (S318N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3089799	NM_000121.4(EPOR):c.743T>G (p.Leu248Arg)	EPOR (L248R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3089798	NM_000121.4(EPOR):c.716C>G (p.Pro239Arg)	EPOR (P239R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3089797	NM_000121.4(EPOR):c.655G>A (p.Ala219Thr)	EPOR (A219T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3089796	NM_000121.4(EPOR):c.47G>T (p.Cys16Phe)	EPOR (C16F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3089795	NM_000121.4(EPOR):c.440C>T (p.Ala147Val)	EPOR (A147V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3089794	NM_000121.4(EPOR):c.1424G>C (p.Gly475Ala)	EPOR (G475A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3089793	NM_000121.4(EPOR):c.1157C>T (p.Pro386Leu)	EPOR (P386L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 3047378	NM_000121.4(EPOR):c.1236G>A (p.Ser412=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	EPOR-related disorder	GLikely benign
Select item 2974918	NM_000121.4(EPOR):c.731C>T (p.Thr244Met)	EPOR (T244M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2921036	NM_000121.4(EPOR):c.957C>G (p.Pro319=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 2920904	NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)	EPOR (L167F)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 2793660	NM_000121.4(EPOR):c.428-10A>T	EPOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724767	NM_000121.4(EPOR):c.1341T>C (p.Pro447=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2713525	NM_000121.4(EPOR):c.975G>A (p.Glu325=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649328	NM_000121.4(EPOR):c.451C>T (p.Leu151=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649327	NM_000121.4(EPOR):c.999C>A (p.Val333=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2627536	NM_000121.4(EPOR):c.1362C>G (p.Tyr454Ter)	EPOR (Y454*)	Single nucleotide variant (nonsense +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 2617869	NM_000121.4(EPOR):c.70T>C (p.Trp24Arg)	EPOR (W24R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529861	NM_000121.4(EPOR):c.1261G>C (p.Ala421Pro)	EPOR (A421P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488766	NM_000121.4(EPOR):c.1334T>G (p.Leu445Arg)	EPOR (L445R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 2405607	NM_000121.4(EPOR):c.874G>A (p.Glu292Lys)	EPOR (E292K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321525	NM_000121.4(EPOR):c.554C>T (p.Ser185Leu)	EPOR (S185L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319672	NM_000121.4(EPOR):c.1127T>C (p.Leu376Pro)	EPOR (L376P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317306	NM_000121.4(EPOR):c.1010G>A (p.Arg337His)	EPOR (R337H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313363	NM_000121.4(EPOR):c.1454A>G (p.Tyr485Cys)	EPOR (Y485C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298957	NM_000121.4(EPOR):c.437A>T (p.Asp146Val)	EPOR (D146V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294351	NM_000121.4(EPOR):c.1072C>T (p.Pro358Ser)	EPOR (P358S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279297	NM_000121.4(EPOR):c.562A>C (p.Asn188His)	EPOR (N188H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274314	NM_000121.4(EPOR):c.1207G>A (p.Ala403Thr)	EPOR (A403T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251875	NM_000121.4(EPOR):c.808G>A (p.Ala270Thr)	EPOR (A270T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240967	NM_000121.4(EPOR):c.715C>T (p.Pro239Ser)	EPOR (P239S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216493	NM_000121.4(EPOR):c.58G>T (p.Ala20Ser)	EPOR (A20S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1954288	NM_000121.4(EPOR):c.10C>T (p.Leu4Phe)	EPOR (L4F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1918798	NM_000121.4(EPOR):c.1140G>A (p.Pro380=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 1249952	NM_000121.4(EPOR):c.252-275dup	EPOR	Duplication (intron variant)	not provided	GBenign
Select item 1227813	NM_000121.4(EPOR):c.252-257del	EPOR	Deletion (intron variant)	not provided	GBenign
Select item 1179688	NM_000121.4(EPOR):c.252-261A>T	EPOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 929899	NM_000121.4(EPOR):c.586-1G>A	EPOR	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 891979	NM_000121.4(EPOR):c.251+7C>A	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 891978	NM_000121.4(EPOR):c.335C>T (p.Ala112Val)	EPOR, LOC130063571 (A112V)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 891977	NM_000121.4(EPOR):c.388G>A (p.Ala130Thr)	EPOR, LOC130063570 (A130T)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 891976	NM_000121.4(EPOR):c.558C>A (p.Ala186=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 891934	NM_000121.4(EPOR):c.*32T>C	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 890740	NM_000121.4(EPOR):c.559G>T (p.Gly187Cys)	EPOR (G187C)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 890739	NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)	EPOR (E204Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 890738	NM_000121.4(EPOR):c.663C>T (p.Arg221=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 890737	NM_000121.4(EPOR):c.861G>A (p.Pro287=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 890683	NM_000121.4(EPOR):c.*776A>G	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 890208	NM_000121.4(EPOR):c.-55G>A	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 890207	NM_000121.4(EPOR):c.-25G>A	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 890161	NM_000121.4(EPOR):c.901A>G (p.Lys301Glu)	EPOR (K301E)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 890160	NM_000121.4(EPOR):c.1287G>A (p.Leu429=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 889550	NM_000121.4(EPOR):c.-9G>A	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 889549	NM_000121.4(EPOR):c.13G>A (p.Gly5Arg)	EPOR (G5R)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 889548	NM_000121.4(EPOR):c.116-10C>T	EPOR	Single nucleotide variant (intron variant)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 889491	NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro)	EPOR (S486P)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 889490	NM_000121.4(EPOR):c.1467T>C (p.Tyr489=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
Select item 741068	NM_000121.4(EPOR):c.233G>C (p.Ser78Thr)	EPOR (S78T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 734865	NM_000121.4(EPOR):c.801C>G (p.Thr267=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 728998	NM_000121.4(EPOR):c.249C>A (p.Leu83=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 722326	NM_000121.4(EPOR):c.697T>G (p.Trp233Gly)	EPOR (W233G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 713659	NM_000121.4(EPOR):c.296C>T (p.Ala99Val)	EPOR, LOC130063571 (A99V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 432048	NM_000121.4(EPOR):c.244C>T (p.Gln82Ter)	EPOR (Q82*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 423071	NM_000121.4(EPOR):c.465_481dup (p.His161fs)	EPOR (H161fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 328160	NM_000121.3(EPOR):c.-133T>G	EPOR	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 328159	NM_000121.4(EPOR):c.-68G>A	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328158	NM_000121.4(EPOR):c.-8G>T	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328157	NM_000121.4(EPOR):c.24C>T (p.Leu8=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 328156	NM_000121.4(EPOR):c.115+7A>G	EPOR	Single nucleotide variant (intron variant)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign
Select item 328155	NM_000121.4(EPOR):c.137G>A (p.Gly46Glu)	EPOR (G46E)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign
Select item 328154	NM_000121.4(EPOR):c.168G>T (p.Arg56=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign
Select item 328153	NM_000121.4(EPOR):c.215T>C (p.Val72Ala)	EPOR (V72A)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 328152	NM_000121.4(EPOR):c.438C>T (p.Asp146=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign
Select item 328151	NM_000121.4(EPOR):c.558C>T (p.Ala186=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign/Likely benign
Select item 328150	NM_000121.4(EPOR):c.568G>T (p.Ala190Ser)	EPOR (A190S)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 328149	NM_000121.4(EPOR):c.596T>C (p.Leu199Pro)	EPOR (L199P)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328148	NM_000121.4(EPOR):c.657C>A (p.Ala219=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 328147	NM_000121.4(EPOR):c.864C>T (p.Ser288=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328146	NM_000121.4(EPOR):c.980C>T (p.Pro327Leu)	EPOR (P327L)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328145	NM_000121.4(EPOR):c.1022C>T (p.Thr341Met)	EPOR (T341M)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 328144	NM_000121.4(EPOR):c.1041G>A (p.Pro347=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 328143	NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala)	EPOR (P380A)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign
Select item 328142	NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu)	EPOR (P380L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 328141	NM_000121.4(EPOR):c.1398T>C (p.Thr466=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 328140	NM_000121.4(EPOR):c.1427C>T (p.Ala476Val)	EPOR (A476V)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign

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